Level: expert ·Topic: donor screening, genetic reports, legal precedents
This material is a working tool.No preamble: straight to algorithms, checklists, and real cases.Use it as a reference document — before visiting a clinic, while selecting a donor, and when receiving a genetic report.
Part 1.ClinicVerificationChecklist: 12EssentialQuestions
Ask these questions before signing any agreement.The answers are not a guarantee, but they represent the minimum standard of a professional clinic.If a clinic cannot give clear answers to three or more of them — that is a signal.
Block 1.DonorScreeningProtocol
- What genetic tests does the sperm donor undergo?Request a written list.Minimum: karyotyping + a carrier screening panel for recessive conditions (≥15 disorders).
- Do you useNGS (next-generation sequencing) or only microarray/PCR panels?NGS covers incomparably more variants.
- Do you screen donors for carrier status of: cystic fibrosis (CFTR), spinal muscular atrophy (SMN1), fragileX syndrome (FMR1), haemoglobinopathies,Gaucher disease, phenylketonuria?This is the international minimum for expanded carrier screening perACMG (AmericanCollege ofMedicalGenetics) standards.
- How do you handle variants of uncertain significance (VUS)?A professional clinic will explain their significance — not simply omit them from the report.
Block 2.DataStorage andAccess
- How long is the donor's genetic data retained?The minimum standard is until the adulthood of any children born from that donor (18+ years from the last procedure using that material).
- Does a donor-conceived child have the right to access the donor's medical data upon reaching adulthood, or in the event of medical necessity?
- Does the clinic notify previously conceived children if a donor is subsequently diagnosed with a hereditary condition?
Block 3.Limits andOversight
- What is the maximum family limit per donor?The international recommendation is no more than 25 families (WHO,ESHRE).If the clinic does not answer or names a higher figure — that is a red flag.
- Are you registered with an international or national donor registry?This reduces the risk of uncontrolled limit breaches when a donor is used across multiple clinics simultaneously.
- Do you verify whether a given donor has been used at other clinics?
Block 4.Alignment with theRecipient
- Do you provide the recipient with the donor's full genetic profile (anonymised) before a decision is made?
- Do you have a genetic counsellor who explains screening results before consent is signed?
- Do you conduct a comparative analysis of donor and recipient genetic profiles to identify shared recessive carrier status?
Part 2.How toRead aDonor'sGeneticReport onYourOwn
Most clinics provide a donor's genetic report as aPDF or printout.Here is how to parse it — without a medical degree.
Step 1.Identify the type of test used
The report should specify which technology was used.This matters because different tests cover different risks:
- Karyotype (chromosomal analysis): detects large chromosomal abnormalities (Down syndrome,Klinefelter syndrome, etc.).Does not detect point mutations.
- PCR panel / microarray: checks a fixed list of specific mutations.Fast and inexpensive, but covers only known, pre-selected variants.
- ExpandedCarrierScreening (ECS): a panel of 100–300+ conditions.The current gold standard for donors.
- Whole-exome or whole-genome sequencing (WES/WGS): maximum coverage.Rarely used routinely, but provides the most comprehensive picture.
Step 2.Find theResults section and understand the categories
Genetic test results are generally divided into three categories:
- Negative /Not detected /Carrier negative: the mutation was not found.A good sign, but not an absolute guarantee — the test only checked what it was designed to check.
- Carrier /Heterozygous pathogenic variant detected: the donor carries one copy of a pathogenic mutation.They are most likely healthy themselves.Important: if you are also a carrier of the same mutation, the risk to the child is 25%.
- VUS (Variant ofUncertainSignificance): a variant whose clinical meaning is not yet established.This is not a diagnosis — it is a zone of uncertainty that may be reclassified over time.What matters is knowing which gene is involved and how relevant it is to your situation.
Step 3.Check for overlap with your own carrier status
Step 4.Consult a genetic counsellor
If any carrier status appears in the donor's report, consult a certified genetic counsellor before making a decision.This is not cause for alarm — it is the standard of informed choice.A consultation typically takes one appointment and answers the specific question: 'What does this mean for my situation?'
Part 3.ThreeCourtCasesWhereGeneticsChanged theOutcome
These cases are real.They show how rapidly the legal landscape around donation and genetics is shifting — and why awareness of your rights matters now.
TheCoreTakeaway
All three cases point in the same direction: courts are consistently moving toward prioritising children's medical interests and screening transparency — even where legislation has not yet formalised this explicitly.Clinics operating at minimum standards are taking on growing legal and reputational exposure.
For you as a recipient, this means: the right to demand a detailed screening protocol and a comparative profile analysis exists today — regardless of whether the law in your country explicitly requires it.
MAPASGEN — the podcast about genetics that is already reshaping your life.